Variant report

Variant	rs13283631
Chromosome Location	chr9:6491191-6491192
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:6488881..6491634-chr9:6498188..6500750,2	K562	blood:
2	chr16:89882606..89883507-chr9:6490815..6491315,2	Hela-S3	cervix:
3	chr9:6481146..6482960-chr9:6489961..6492580,2	K562	blood:

Variant related genes	Relation type
ENSG00000187741	Chromatin interaction
ENSG00000147854	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10119350	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10491838	0.83[EUR][1000 genomes]
rs10739101	0.83[EUR][1000 genomes]
rs10739103	1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs10739104	0.83[EUR][1000 genomes]
rs10758763	1.00[YRI][hapmap]
rs10815441	1.00[YRI][hapmap]
rs1156869	1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs13283464	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13283687	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13284032	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13285035	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13285125	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13285152	0.88[EUR][1000 genomes]
rs13285458	0.88[EUR][1000 genomes]
rs13285949	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13286720	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13288875	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13290027	0.96[EUR][1000 genomes]
rs13290126	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13290488	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13291494	0.88[EUR][1000 genomes]
rs13291887	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13292030	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13293015	0.83[EUR][1000 genomes]
rs13294924	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13296481	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13296692	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13299896	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13300059	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13302032	0.88[EUR][1000 genomes]
rs1563	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16924678	1.00[YRI][hapmap]
rs16924682	1.00[YRI][hapmap]
rs2282158	1.00[YRI][hapmap]
rs2297443	1.00[YRI][hapmap]
rs34529113	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34530211	0.88[EUR][1000 genomes]
rs34581400	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs34905133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35301257	0.88[EUR][1000 genomes]
rs35408061	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs36089474	0.88[EUR][1000 genomes]
rs3818705	1.00[YRI][hapmap]
rs424119	0.83[EUR][1000 genomes]
rs4742198	1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs4742200	0.83[EUR][1000 genomes]
rs4742203	0.83[EUR][1000 genomes]
rs503315	0.83[EUR][1000 genomes]
rs553048	0.88[EUR][1000 genomes]
rs67797327	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7043824	1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs7044749	0.83[EUR][1000 genomes]
rs7045164	1.00[YRI][hapmap]
rs72693587	0.88[EUR][1000 genomes]
rs7869419	0.88[EUR][1000 genomes]
rs7872349	0.91[EUR][1000 genomes]
rs7875172	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7875793	0.89[AFR][1000 genomes]
rs922221	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031086	chr9:5806949-6630686	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv539967	chr9:5806949-6630686	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv933124	chr9:6099101-6644738	Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv1029000	chr9:6188652-6687205	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
5	nsv1031459	chr9:6216913-6657192	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv948562	chr9:6222553-6684955	Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv1032350	chr9:6328167-6630686	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv892160	chr9:6364449-6506038	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv892161	chr9:6364449-6523056	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv831497	chr9:6377501-6612402	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
11	nsv1029766	chr9:6437020-6523605	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv892162	chr9:6480005-6788085	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6458800-6497200	Weak transcription	Colonic Mucosa	Colon
2	chr9:6459400-6501800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:6463600-6518400	Weak transcription	Fetal Brain Male	brain
4	chr9:6467400-6497200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr9:6471600-6501800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:6471600-6504600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:6472200-6497200	Weak transcription	Aorta	Aorta
8	chr9:6472200-6508200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:6473000-6491600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:6473000-6499600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr9:6473800-6498400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr9:6473800-6506200	Weak transcription	Small Intestine	intestine
13	chr9:6474800-6502800	Strong transcription	Dnd41	blood
14	chr9:6475200-6503000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr9:6475400-6491800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr9:6475400-6491800	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr9:6475400-6494400	Strong transcription	Fetal Thymus	thymus
18	chr9:6475400-6508200	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr9:6475400-6508400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr9:6475400-6508800	Strong transcription	Primary B cells from peripheral blood	blood
21	chr9:6475400-6508800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr9:6475600-6494800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr9:6475800-6491800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr9:6475800-6492000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr9:6475800-6492800	Strong transcription	GM12878-XiMat	blood
26	chr9:6475800-6493000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:6475800-6493400	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr9:6475800-6497200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:6475800-6509000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr9:6475800-6510800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr9:6476000-6509400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr9:6476600-6491800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr9:6476600-6494400	Strong transcription	Osteobl	bone
34	chr9:6477600-6491800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr9:6477600-6497800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr9:6477600-6507800	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr9:6477800-6511000	Weak transcription	Fetal Heart	heart
38	chr9:6478000-6498200	Weak transcription	Brain Angular Gyrus	brain
39	chr9:6478200-6498000	Weak transcription	Esophagus	oesophagus
40	chr9:6478400-6503400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr9:6478600-6498600	Weak transcription	Spleen	Spleen
42	chr9:6479000-6491800	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr9:6480200-6508400	Weak transcription	Stomach Mucosa	stomach
44	chr9:6480400-6496600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr9:6480400-6497400	Weak transcription	Psoas Muscle	Psoas
46	chr9:6481600-6502800	Strong transcription	Duodenum Mucosa	Duodenum
47	chr9:6482000-6491400	Strong transcription	Thymus	Thymus
48	chr9:6482200-6491800	Strong transcription	Fetal Muscle Leg	muscle
49	chr9:6483200-6496800	Weak transcription	Right Ventricle	heart
50	chr9:6483200-6498000	Strong transcription	HMEC	breast

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